Article
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
American journal of medical genetics. Part A - 1 Jun 2018
Pizzino Amy, Whitehead Matthew, Sabet Rasekh Parisa, Murphy Jennifer, Helman Guy, Bloom Miriam, Evans Sarah H, Murnick John G, Conry Joan, Taft Ryan J, Simons Cas, Vanderver Adeline, Adang Laura A
Abstract excerpt
Early-onset epileptic encephalopathies (EOEEs) are a genetically heterogeneous collection of severe epilepsies often associated with psychomotor regression. Mutations in SZT2, a known seizure threshold regulator gene, are a newly identified cause of EOEE. We present an individual with EOEE, macrocephaly, and developmental regression with compound heterozygous mutations in SZT2 as identified by whole exome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.